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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | Gaucher's disease type III | |
| Synonyms |
Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Chronic Neuronopathic Type GD III |
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| Definitions |
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110959 |
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| alternative label |
Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Chronic Neuronopathic Type GD III
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| database_cross_reference |
ICD10CM:E75.2 MIM:231000 ORDO:77261
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|
| definition |
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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| has exact synonym |
Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Chronic Neuronopathic Type GD III
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0110959
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| in_subset | ||
| label |
Gaucher's disease type III
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|
| notation |
DOID:0110959
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|
| note |
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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|
| preferred label |
Gaucher's disease type III
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| prefLabel |
Gaucher's disease type III
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| subClassOf |
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